Article

Association of Structural Forms of 17q21.31 with the Risk of Progressive Supranuclear Palsy and<i>MAPT</i>Sub-haplotypes

2024-02-27

Abstract excerpt

<h4>Importance</h4> The chromosome 17q21.31 region, containing a 900 Kb inversion that defines H1 and H2 haplotypes, represents the strongest genetic risk locus in progressive supranuclear palsy (PSP). In addition to H1 and H2, various structural forms of 17q21.31, characterized by the copy number of α, β, and γ duplications, have been identified. However, the specific effect of each structural form on the risk of...

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Literature Corpus work: 035b2189-1db1-5ff4-b59d-a01d9e8962e9
DOI: 10.1101/2024.02.26.24303379

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